DisGeNET - a database of gene-disease associations

Frontotemporal dementia, C0338451

Gene: PSEN1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750900

PSEN1

0.700

CausalMutation

CLINVAR

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

28350801

2017

dbSNP:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

27777022

2016

dbSNP:

rs63750900

PSEN1

0.700

CausalMutation

CLINVAR

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

27777022

2016

dbSNP:

rs63751278

PSEN1

0.700

CausalMutation

CLINVAR

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

27793474

2017

dbSNP:

rs63750526

PSEN1

0.700

CausalMutation

CLINVAR

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

7596406

1995

dbSNP:

rs661

PSEN1

0.700

CausalMutation

CLINVAR

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

7596406

1995

dbSNP:

rs1566650594

PSEN1

0.700

CausalMutation

CLINVAR

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

26194182

2015

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Disease-related mutations among Caribbean Hispanics with familial dementia.

25333068

2014

dbSNP:

rs63750083

PSEN1

0.700

CausalMutation

CLINVAR

Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.

20145736

2010

dbSNP:

rs661

PSEN1

0.700

CausalMutation

CLINVAR

Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.

17288597

2007

dbSNP:

rs63750053

PSEN1

0.700

CausalMutation

CLINVAR

Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.

26923592

2016

dbSNP:

rs63751278

PSEN1

0.700

CausalMutation

CLINVAR

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

18580586

2008

dbSNP:

rs63751278

PSEN1

0.700

CausalMutation

CLINVAR

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

9225696

1997

dbSNP:

rs63751287

PSEN1

0.710

CausalMutation

CLINVAR

Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

27014058

2016

dbSNP:

rs63751399

PSEN1

0.810

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs63750450

PSEN1

0.700

CausalMutation

CLINVAR

Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

9384602

1998

dbSNP:

rs661

PSEN1

0.700

CausalMutation

CLINVAR

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

24880964

2014

dbSNP:

rs63750231

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.

22461631

2012

dbSNP:

rs661

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

24011544

2014

dbSNP:

rs661

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.

27100199

2016

dbSNP:

rs1566650594

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

20634584

2010

dbSNP:

rs63750083

PSEN1

0.700

CausalMutation

CLINVAR

Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

20634584

2010

dbSNP:

rs63750083

PSEN1

0.700

CausalMutation

CLINVAR

Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.

16628450

2006

dbSNP:

rs63750082

PSEN1

0.700

CausalMutation

CLINVAR

Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.

23114514

2013

dbSNP:

rs63751068

PSEN1

0.010

GeneticVariation

BEFREE

Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder.

15122701

2004